Inverted duplication including Endothelin 3 closely related to dermal hyperpigmentation in Silkie chickens |
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| Authors: | Ming TIAN Suyun FANG Yanqiang WANG Xiaorong GU Chungang FENG Rui HAO Xiaoxiang HU Ning LI |
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| Institution: | State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing 100193, China |
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| Abstract: | The dermal hyperpigmentation phenotype in chickens is controlled by the dominant fibromelanosis allele. One of the ten unique characteristics of Silkie chickens is the fibromelanosis phenotype, which is pigmentation in the dermal layer of the skin and connective tissue. In this study, we found a mutation of fibromelanosis, a genomic rearrangement that included an inverted duplication of endothelin3 (EDN3), is responsible. We show that, as a stimulator of melanoblast proliferation, EDN3 expression was increased in silkie embryos and in both skin and muscle throughout adulthood. EDN3 expression led to an increase in expression of the downstream genes EDNRB2 and TYRP2, and was closely relate with the hyperpigmentation phenotype. We examined eight different Chinese chicken breeds showing hyperpigmentation and conclude that this structural genetic variant exists in all fibromelanosis chicken breeds. |
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| Keywords: | dermal hyperpigmentation duplication endothelin 3 Silkie chicken |
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